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SMARCAL1 Gene SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily a Like 1

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SMARCAL1 Gene SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily a Like 1 SMARCAL1 gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 Normal Function The SMARCAL1 gene provides instructions for producing a protein whose specific function is unknown. The SMARCAL1 protein can attach (bind) to chromatin, which is the complex of DNA and protein that packages DNA into chromosomes. Based on the function of similar proteins, the SMARCAL1 protein is thought to influence the activity ( expression) of other genes through a process known as chromatin remodeling. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed. Health Conditions Related to Genetic Changes Schimke immuno-osseous dysplasia More than 40 mutations in the SMARCAL1 gene have been found to increase the risk of Schimke immuno-osseous dysplasia. The mutations associated with Schimke immuno- osseous dysplasia disrupt the usual functions of the SMARCAL1 protein or prevent the production of any functional protein. People who have mutations that cause a complete lack of functional protein tend to have a more severe form of this disorder than those who have mutations that lead to an active but malfunctioning protein. Mutations in the SMARCAL1 gene are thought to lead to disease by affecting protein activity, protein stability, or the protein's ability to bind to chromatin. It is not clear how SMARCAL1 mutations contribute to short stature, kidney disease, and a weakened immune system in people with Schimke immuno-osseous dysplasia. In order for people with SMARCAL1 gene mutations to develop Schimke immuno-osseous dysplasia, other currently unknown genetic or environmental factors must also be present. Other Names for This Gene • HARP • HepA-related protein • HHARP Reprinted from MedlinePlus Genetics (https://medlineplus.gov/genetics/) 1 • SMAL1_HUMAN • SMARCA-like protein 1 • SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 • SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a-like 1 Additional Information & Resources Tests Listed in the Genetic Testing Registry • Tests of SMARCAL1 (https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=50485[geneid ]) Scientific Articles on PubMed • PubMed (https://pubmed.ncbi.nlm.nih.gov/?term=%28SMARCAL1%5BTIAB%5D% 29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days %22%5Bdp%5D) Catalog of Genes and Diseases from OMIM • SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A-LIKE PROTEIN 1 (https://omim.org/entry/606622) Research Resources • ClinVar (https://www.ncbi.nlm.nih.gov/clinvar?term=SMARCAL1[gene]) • NCBI Gene (https://www.ncbi.nlm.nih.gov/gene/50485) References • Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, AndréJL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, JosephM, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F,Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J,Weksberg R, Lupski JR, Stockton DW. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet. 2002 Feb;30(2):215-20. Epub2002 Jan 22. Citation on PubMed (https://pubmed.ncbi.nlm.nih.gov/11799392) • Deguchi K, Clewing JM, Elizondo LI, Hirano R, Huang C, Choi K, Sloan EA, LückeT, Marwedel KM, Powell RD Jr, Santa Cruz K, Willaime-Morawek S, Inoue K, Lou S, Northrop JL, Kanemura Y, van der Kooy D, Okano H, Armstrong DL, Boerkoel CF. Neurologic phenotype of Schimke immuno-osseous dysplasia and Reprinted from MedlinePlus Genetics (https://medlineplus.gov/genetics/) 2 neurodevelopmentalexpression of SMARCAL1. J Neuropathol Exp Neurol. 2008 Jun;67(6):565-77. doi: 10.1097/NEN.0b013e3181772777. Citation on PubMed (https://pubmed.ncbi.nlm.nih .gov/18520775) • Elizondo LI, Cho KS, Zhang W, Yan J, Huang C, Huang Y, Choi K, Sloan EA, Deguchi K, Lou S, Baradaran-Heravi A, Takashima H, Lücke T, Quiocho FA, Boerkoel CF. Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypiccorrelation. J Med Genet. 2009 Jan;46(1):49-59. doi: 10.1136/jmg.2008. 060095.Epub 2008 Sep 19. Citation on PubMed (https://pubmed.ncbi.nlm.nih.gov/18 805831) Genomic Location The SMARCAL1 gene is found on chromosome 2 (https://medlineplus.gov/genetics/chr omosome/2/). Page last updated on 18 August 2020 Page last reviewed: 1 November 2008 Reprinted from MedlinePlus Genetics (https://medlineplus.gov/genetics/) 3.
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